Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

S.H.G. Kevelam, M. Bugiani, G.S. Salomons, A. Feigenbaum, S. Blaser, C. Prasad, J. Haberle, I. Baric, I.M.C. Bakker, N.L. Postma, W.A. Kanhai, N.I. Wolf, G.E.M. Abbink, Q. Waisfisz, P. Heutink, M.S. van der Knaap

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    Neuroscience

    Biochemistry, Genetics and Molecular Biology